Alagille syndrome may alter peritoneal microvasculature and cellular membranes, according to a case study published in the Portuguese Journal of Nephrology & Hypertension. 

This could explain why peritoneal ultrafiltration was not effective in the patient who underwent the procedure to treat her chronic kidney disease due to vascular renal hypoplasia and chronic and refractory right ventricular heart failure, the authors said.

Chronic kidney disease is common in patients with Alagille syndrome. However, this rarely progresses to kidney failure. So, the therapeutic approach can only be decided upon after careful evaluation in a case-by-case manner.

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“We hope to raise awareness to a possible specific [Alagille syndrome]-related peritoneal microvasculature or membrane alteration caused by JAG1 or NOTCH2 mutations and to the need for future studies to confirm this hypothesis,“ the researchers wrote. “Until new evidence comes to light, these patients warrant careful evaluation and individualized decisions.”

Read more about Alagille syndrome etiology

Peritoneal ultrafiltration did not relieve any of the patient’s symptoms and records showed insignificant ultrafiltration, according to the case study. Two extra exchanges with glucose solutions were added to the peritoneal ultrafiltration scheme, but there was no improvement in ultrafiltration capacity.

An increase in net ultrafiltration and clinical improvements were attained only after the dwell time was increased to 7 hours between the 2 glucose solution exchanges. These findings led the researchers to consider that there may be an Alagille syndrome-related intrinsic barrier to peritoneal ultrafiltration.

Notch signaling, which is defective in Alagille syndrome, plays an important role in vascular development and stability. Recent research suggested that vasculopathy, the primary abnormality in Alagille syndrome, may explain the multisystemic phenotype of the disease.

Although Alagille syndrome mostly affects the liver, renal involvement is also present in 39% of cases. The most common manifestation of renal involvement is renal dysplasia. Other manifestations include renal tubular acidosis, vesicoureteral reflux, and urinary obstruction.


Abrantes C, Furtado T, Domingues P, et al. Alagille syndrome: an ultrafiltration dilemma. Port J Nephrol Hypert. 2021; 35(3):203-204. doi:10.32932/pjnh.2021.10.148